ClinVar Miner

List of variants in gene DMD reported as pathogenic for Dilated cardiomyopathy 3B

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(33020201_33211281)_(33211556_?)del
NG_012232.1:g.702849_702850insinsY13186.2:g.2333_2491
NM_004006.3(DMD):c.10086+1G>A rs398123828
NM_004006.3(DMD):c.10210dup (p.Asp3404fs) rs2040821014
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.1603-2A>T rs773779441
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter) rs1057518962
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.4345-3C>G rs2097987224
NM_004006.3(DMD):c.4375del (p.Arg1459fs) rs2097987064
NM_004006.3(DMD):c.4684del (p.Arg1562fs) rs2147473202
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.835A>G (p.Thr279Ala) rs128627255
NM_004006.3(DMD):c.8800G>T (p.Glu2934Ter) rs1603222556
NM_004006.3(DMD):c.93+1G>C rs886042604
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del

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